The Medical Advisory Board for Advancing CTNNB1 Cures & Treatments sets the strategic direction for our funded research on CTNNB1 Syndrome.
Wendy K. Chung, M.D., Ph.D.Kennedy Family Professor of Pediatrics and Medicine
Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Professor of Pediatrics and Medicine at Columbia University Irving Medical Center. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics.
Dr. Chung directs NIH funded research programs in human genetics of autism, neurodevelopmental disorders, birth defects including congenital diaphragmatic hernia and congenital heart disease, pulmonary hypertension, cardiomyopathy, and breast cancer. Her studies to develop and implement inexpensive newborn screening for spinal muscular atrophy have been instrumental in changing the policy to screen every newborn in the US for this genetic condition to ensure access to presymptomatic treatment with gene therapy and oligonucleotide therapy. She leads the Precision Medicine Resource in the Irving Institute at Columbia University. She was the recipient of the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, and she was awarded the 2018 Academy Medal for Distinguished Contributions in Biomedical Science.
Most recently, Dr. Chung was named an honoree at the National Organization for Rare Disorders (NORD) 2019 Rare Impact Awards for her outstanding work in support of the rare disease community.
Dr. Chung is renowned for her teaching and mentoring and received Columbia University’s highest teaching award, the Presidential Award for Outstanding Teaching. She is well known for her TED talks with millions of views. She was the original plaintiff in the Supreme Court case that overturned the ability to patent genes and the Institute of Medicine Committee on Genetic Testing.
A world leader in the diagnosis and treatment of rare diseases, Dr. Chung has identified more than 38 new genes for human diseases. She is experienced in both the molecular and clinical characterization of the disorders associated with these gene mutations, as well as the integration of these discoveries into clinical practice through the development and implementation of clinical genetic testing in medical care.
Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost effective manner.
H.Y. Edwin Chan, Ph.D.School of Life Sciences at the Chinese University of Hong Kong
Dr. Chan obtained his doctoral degree from the University of Cambridge, UK and postdoctoral training from University of Pennsylvania, USA. His main areas of interest are human disease modelling, cellular, genetic and biochemical analyses of rare neurological diseases.
Eileen StarkClinical Scientist at Cellectis, Clinical-Stage Biopharmaceutical Company
Eileen spent much of her career as a Pediatric Neuro-Oncology Nurse Practitioner in the Division of Pediatric Hematology, Oncology and Stem Cell Transplant at the Children’s Hospital of New York Presbyterian, Columbia University. Most recently, she has taken on the role as a clinical scientist at Cellectis. Cellectis has 20 years of expertise in gene editing.
Gerald F. Cox, MD, PhDOwner, Gerald Cox Rare Care Consulting, LLC Staff Physician in Genetics, Part-time, Boston Children’s Hospital Instructor in Pediatrics, Harvard Medical School
Dr. Gerry Cox is a 20-year veteran of the biotechnology industry and a practicing clinical geneticist for over 25 years. In 2018, he founded Gerald Cox Rare Care Consulting, LLC to assist small biotechnology companies developing drugs for rare genetic diseases. Dr. Cox has consulted in a number of disease areas, including inborn errors of metabolism, muscular dystrophy, neurological disorders, immunodeficiencies, and complement-mediated diseases, using a number of therapeutic approaches, ranging from small molecules to enzymes, antibodies, oligonucleotides, gene therapies, and genome editing. Dr. Cox often serves as Chief Medical Officer at companies, providing strategic advice on new disease and drug targets, clinical development pathways, and regulatory interactions, as well as overseeing the company-sponsored clinical trials. As Chief Medical Officer at CANbridge Pharmaceuticals, the leading rare disease company in China, Dr. Cox played a key role in the regulatory approval of Hunterase® (idursulfase beta), an enzyme replacement therapy for Mucopolysaccharidosis type II (Hunter syndrome) in China in 2020.
Dr. Cox’s introduction to drug development began at Genzyme, where as the company’s first clinical geneticist, he rose to Vice President of Clinical Development for Rare Diseases. During his 16 years at Genzyme and later at Sanofi Genzyme, he led the clinical development programs of several enzyme replacement and substrate reduction therapies used to treat lysosomal storage disorders that resulted in the regulatory approvals of Aldurazyme® (laronidase) for Mucopolysaccharidosis type I in 2003 (worldwide), Elaprase® (idursulfase) for Mucopolysaccharidosis type II in 2007 (Japan and Asia-Pacific), Cerdelga® (eliglustat) for Gaucher disease type 1 in 2014 (worldwide), and a Cerezyme® (imiglucerase) label expansion for Gaucher disease type 3 in 2016 (China). He also led the early clinical development programs of Myozyme® (alglucosidase alfa) for Pompe disease, venglustat for Gaucher disease type 3 and late-onset GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases), and olipudase alfa for acid sphingomyelinase disease (Niemann-Pick disease types A and B).
From 2016-2018, Dr. Cox was Chief Medical Officer at Editas Medicine, a CRISPR-based genome editing company, where he oversaw clinical development, regulatory affairs, and scientific communications. He was the medical lead on the FDA-approved Investigational New Drug Application for the first in vivo delivery of a CRISPR-based medicine, EDIT-101, to treat Leber congenital amaurosis type 10, the most common cause of genetic blindness in children.
Dr. Cox is a board-certified medical geneticist (clinical, biochemical, and molecular genetics) who continues to teach fellows and see patients on a part-time basis at Boston Children’s Hospital, where he was previously on the full-time staff and completed his pediatrics and genetics training. He also is an Instructor in Pediatrics at Harvard Medical School. Dr. Cox received his MD and PhD from the University of California at San Diego in 1989, and a BA in biology magna cum laude from Harvard College in 1980. He has authored over 85 peer-reviewed publications and written several book chapters and reviews.
In 2019, Dr. Cox joined the board of directors of the National Tay-Sachs and Allied Diseases patient advocacy organization, and in 2020 he led their strategic research initiative. He was a founding member of the NIH-sponsored Pediatric Cardiomyopathy Registry, which characterized the epidemiology, causes, and outcomes of cardiomyopathy in infants, children, and adolescents. Dr. Cox was also a founding member of the Barth Syndrome Foundation, where he served on its Medical and Scientific Advisory Board for many years and recently joined its gene therapy advisory board.